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Dr. Patricia Cabrera: Learning Genetics and Linking NEI to the Philippines

May 22, 2015
NEI
Leaders from the University of Philippines (UP) and Philippine NIH (PNIH) met with NEI staff in May 2015. From L to R: Dr. Fielding Hejtmancik; Dr. Marie Carmela M. Lapitan, director of research management and translation, PNIH; Dr. Arlene Samaniego, vice chancellor, UP; Dr. Eva Maria Cutiongco-de la Paz, vice chancellor for research and executive director, PNIH; Dr. Belinda Seto; Dr. Carmencita Padilla; Dr. Paul A. Sieving; Dr. Gyan Prakash, Dr. Patricia Cabrera; and Dr. Manuel Datiles.

Leaders from the University of Philippines (UP) and Philippine NIH (PNIH) met with NEI staff in May 2015. From L to R: Dr. Fielding Hejtmancik; Dr. Marie Carmela M. Lapitan, director of research management and translation, PNIH; Dr. Arlene Samaniego, vice chancellor, UP; Dr. Eva Maria Cutiongco-de la Paz, vice chancellor for research and executive director, PNIH; Dr. Belinda Seto; Dr. Carmencita Padilla; Dr. Paul A. Sieving; Dr. Gyan Prakash, Dr. Patricia Cabrera; and Dr. Manuel Datiles.

A delegation from the University of the Philippines (UP) and the Philippine National Institutes of Health recently visited NEI on May 21, 2015. It was an opportunity to renew old collaborations and discuss new ones—among them, genetic research projects planned by Dr. Patricia Cabrera, a visiting fellow at NEI.

Dr. Cabrera recently completed her ophthalmology training at UP, which is the home of the Philippine NIH. She came to NEI in January to work with Dr. Fielding Hejtmancik, chief of the NEI Section on Ophthalmic Molecular Genetics. She’ll spend two years here learning molecular and clinical genetics techniques, and then she’ll return to the Philippine NIH and its Philippine Eye Research Institute (PERI) to set up her own genetics lab.

The meeting between UP and NEI was the second of its kind. In 2012, UP officials came to NEI at the invitation of Dr. Hejtmancik and Dr. Manuel Datiles, an NEI medical officer and senior clinical investigator, who did part of his ophthalmology training at UP. That meeting laid the groundwork for an ongoing collaboration.

At the t meeting, UP officials were welcomed by Drs. Hejtmancik, Datiles and Cabrera, and also by NEI Director Dr. Paul A. Sieving, Deputy Director Dr. Belinda Seto, and Dr. Gyan Prakash, associate director of international programs.

Dr. Carmencita Padilla, who is chancellor at the University of the Philippines and executive director of the Philippine Genome Center, said the purpose of the group’s trip to the U.S. was to enhance their relationship with NEI and other organizations. They also visited NIH’s National Center for Advancing Translational Sciences and Fogarty International Center, plus area medical schools.

At the NEI meeting, the discussion focused largely on Dr. Cabrera’s fellowship and her future genetic research at PERI.

“As a pediatric ophthalmologist, I’ve seen a lot of eye diseases that run in families. There are some diseases that just make you feel helpless,” Dr. Cabrera said.

Genes contribute to rare, inherited eye diseases, and also to common eye diseases, such as age-related macular degeneration (AMD). So far, for example, some 30 genes have been linked to congenital cataract, and about 20 genes have been linked to AMD. But these findings are mostly from American and European populations. Researchers suspect they’ll find distinct eye disease genes in Asian populations. And the more we know about the genetic basis of eye disease, the more we’ll understand about disease biology and potential treatments for everyone.

Dr. Hejtmancik has vast experience in developing protocols for clinical genetics research, and adapting them for international use. Dr. Cabrera will help bring those protocols to PERI—adapting them to the native language (Tagalog), customs, and legal-regulatory systems—so that they can be used to probe the genetics of eye disease in Filipino families.

There was also discussion about the Asian Eye Genetics Consortium (AEGC), an effort led by Dr. Prakash to support international collaboration on genetic research. The consortium currently includes leading research organizations from Australia, China, India, Japan, South Korea, and Sri Lanka. Dr. Prakash is working with PERI to ensure that the Philippines is represented in the AEGC.